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An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly est...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medical University Publishing House Craiova
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940929/ https://www.ncbi.nlm.nih.gov/pubmed/36815080 http://dx.doi.org/10.12865/CHSJ.48.03.16 |
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author | SINGH, SURYA VIJAY PURI, GYANENDRA GEMMY, ANISHA ELIZABETH |
author_facet | SINGH, SURYA VIJAY PURI, GYANENDRA GEMMY, ANISHA ELIZABETH |
author_sort | SINGH, SURYA VIJAY |
collection | PubMed |
description | Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM |
format | Online Article Text |
id | pubmed-9940929 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Medical University Publishing House Craiova |
record_format | MEDLINE/PubMed |
spelling | pubmed-99409292023-02-21 An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations SINGH, SURYA VIJAY PURI, GYANENDRA GEMMY, ANISHA ELIZABETH Curr Health Sci J Case Report Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM Medical University Publishing House Craiova 2022 2022-09-30 /pmc/articles/PMC9940929/ /pubmed/36815080 http://dx.doi.org/10.12865/CHSJ.48.03.16 Text en Copyright © 2022, Medical University Publishing House Craiova https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Public License, which permits unrestricted use, adaptation, distribution and reproduction in any medium, non-commercially, provided the new creations are licensed under identical terms as the original work and the original work is properly cited. |
spellingShingle | Case Report SINGH, SURYA VIJAY PURI, GYANENDRA GEMMY, ANISHA ELIZABETH An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations |
title | An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
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title_full | An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
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title_fullStr | An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
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title_full_unstemmed | An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
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title_short | An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
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title_sort | unusual presentation of bilateral split hand-foot malformation (shfm) in family: a tale of two generations |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940929/ https://www.ncbi.nlm.nih.gov/pubmed/36815080 http://dx.doi.org/10.12865/CHSJ.48.03.16 |
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